MC4R, melanocortin 4 receptor, 4160

N. diseases: 149; N. variants: 58
Disease: Congenital leptin deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3838754
Disease: Congenital leptin deficiency
Congenital leptin deficiency 		0.020 Biomarker disease BEFREE A cohort of n = 21 children living in Germany or Austria with monogenic obesity due to congenital leptin deficiency (group LEP, n = 6), leptin receptor deficiency (group LEPR, n = 6) and primarily heterozygous MC4 receptor deficiency (group MC4R, n = 9) was analyzed. 29568105 2018
CUI: C3838754
Disease: Congenital leptin deficiency
Congenital leptin deficiency 		0.020 GeneticVariation disease BEFREE Similar patterns of infancy onset hyperphagia, excessive weight gain and tall stature are seen in subjects with congenital leptin deficiency and in subjects with MC4R mutations. 10718839 2000